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Variant : CV614624 (Single allele) Homo sapiens

Symbol: CV614624
Name: Single allele
Condition: not provided [RCV000768459]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: ADM2   ALG12   ARSA   BRD1   CELSR1   CERK   CHKB   CPT1B   CRELD2   DENND6B   GRAMD4   HDAC10   IL17REL   KLHDC7B   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MLC1   MOV10L1   NCAPH2   ODF3B   PANX2   PIM3   PLXNB2   PPP6R2   SBF1   SCO2   SELENOO   SHANK3   SYCE3   TAFA5   TBC1D22A   TRABD   TTLL8   TUBGCP6   TYMP   ZBED4  
Variant Type: deletion (SO:0000159)
Evidence: case-control
Human AssemblyChrPosition (strand)Source
GRCh372246,794,432 - 51,139,778CLINVAR
Cytogenetic Map2222q13.31-13.33CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14399341
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.